UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135031327G>A | CA446784554 | PITX1 | c.351C>T (p.Ser117=) c.473C>T n.684C>T | |
| 5 | g.135031327G>C | CA361028475 | PITX1 | c.351C>G (p.Ser117Arg) c.473C>G n.684C>G | |
| 5 | g.135031327G>T | CA361028476 | PITX1 | c.351C>A (p.Ser117Arg) c.473C>A n.684C>A | COSMIC |
| 5 | g.135031328C>A | CA361028477 | PITX1 | c.350G>T (p.Ser117Ile) c.472G>T n.683G>T | |
| 5 | g.135031328C>G | CA361028478 | PITX1 | c.350G>C (p.Ser117Thr) c.472G>C n.683G>C | |
| 5 | g.135031328C>T | CA361028479 | PITX1 | c.350G>A (p.Ser117Asn) c.472G>A n.683G>A | |
| 5 | g.135031329T>A | CA361028482 | PITX1 | c.349A>T (p.Ser117Cys) c.471A>T n.682A>T | |
| 5 | g.135031329T>C | CA361028480 | PITX1 | c.349A>G (p.Ser117Gly) c.471A>G n.682A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031329T>G | CA361028481 | PITX1 | c.349A>C (p.Ser117Arg) c.471A>C n.682A>C | |
| 5 | g.135031329T= | CA1584341716 | PITX1 | c.349A= (p.Ser117=) c.471A= n.682A= | |
| 5 | g.135031330C>A | CA361028483 | PITX1 | c.348G>T (p.Met116Ile) c.470G>T n.681G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031330C= | CA1584341719 | PITX1 | c.348G= (p.Met116=) c.470G= n.681G= | |
| 5 | g.135031330C>G | CA361028484 | PITX1 | c.348G>C (p.Met116Ile) c.470G>C n.681G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031330C>T | CA361028485 | PITX1 | c.348G>A (p.Met116Ile) c.470G>A n.681G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031331A= | CA1584341724 | PITX1 | c.347T= (p.Met116=) c.469T= n.680T= | |
| 5 | g.135031331A>C | CA361028486 | PITX1 | c.347T>G (p.Met116Arg) c.469T>G n.680T>G | dbSNP gnomAD v4 |
| 5 | g.135031331A>G | CA361028487 | PITX1 | c.347T>C (p.Met116Thr) c.469T>C n.680T>C | |
| 5 | g.135031331A>T | CA361028488 | PITX1 | c.347T>A (p.Met116Lys) c.469T>A n.680T>A | |
| 5 | g.135031332T>A | CA361028489 | PITX1 | c.346A>T (p.Met116Leu) c.468A>T n.679A>T | gnomAD v4 |
| 5 | g.135031332T>C | CA361028490 | PITX1 | c.346A>G (p.Met116Val) c.468A>G n.679A>G | gnomAD v4 |
| 5 | g.135031332T>G | CA361028491 | PITX1 | c.346A>C (p.Met116Leu) c.468A>C n.679A>C | gnomAD v4 |
| 5 | g.135031333G>A | CA446784555 | PITX1 | c.345C>T (p.Asp115=) c.467C>T n.678C>T | |
| 5 | g.135031333G>C | CA361028492 | PITX1 | c.345C>G (p.Asp115Glu) c.467C>G n.678C>G | |
| 5 | g.135031333G>T | CA361028493 | PITX1 | c.345C>A (p.Asp115Glu) c.467C>A n.678C>A | |
| 5 | g.135031334T>A | CA361028495 | PITX1 | c.344A>T (p.Asp115Val) c.466A>T n.677A>T | |
| 5 | g.135031334T>C | CA361028496 | PITX1 | c.344A>G (p.Asp115Gly) c.466A>G n.677A>G | |
| 5 | g.135031334T>G | CA361028494 | PITX1 | c.344A>C (p.Asp115Ala) c.466A>C n.677A>C | |
| 5 | g.135031335C>A | CA361028497 | PITX1 | c.343G>T (p.Asp115Tyr) c.465G>T n.676G>T | |
| 5 | g.135031335C= | CA1584341726 | PITX1 | c.343G= (p.Asp115=) c.465G= n.676G= | |
| 5 | g.135031335C>G | CA361028498 | PITX1 | c.343G>C (p.Asp115His) c.465G>C n.676G>C | gnomAD v4 |
| 5 | g.135031335C>T | CA361028499 | PITX1 | c.343G>A (p.Asp115Asn) c.465G>A n.676G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031336G>A | CA446784556 | PITX1 | c.342C>T (p.Pro114=) c.464C>T n.675C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031336G>C | CA3417644 | PITX1 | c.342C>G (p.Pro114=) c.464C>G n.675C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031336G= | CA1584341730 | PITX1 | c.342C= (p.Pro114=) c.464C= n.675C= | |
| 5 | g.135031336G>T | CA446784558 | PITX1 | c.342C>A (p.Pro114=) c.464C>A n.675C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031337G>A | CA361028500 | PITX1 | c.341C>T (p.Pro114Leu) c.463C>T n.674C>T | |
| 5 | g.135031337G>C | CA361028501 | PITX1 | c.341C>G (p.Pro114Arg) c.463C>G n.674C>G | |
| 5 | g.135031337G>T | CA361028502 | PITX1 | c.341C>A (p.Pro114His) c.463C>A n.674C>A | |
| 5 | g.135031338G>A | CA361028503 | PITX1 | c.340C>T (p.Pro114Ser) c.462C>T n.673C>T | |
| 5 | g.135031338G>C | CA361028504 | PITX1 | c.340C>G (p.Pro114Ala) c.462C>G n.673C>G | |
| 5 | g.135031338G>T | CA361028505 | PITX1 | c.340C>A (p.Pro114Thr) c.462C>A n.673C>A | |
| 5 | g.135031339G>A | CA446784559 | PITX1 | c.339C>T (p.Tyr113=) c.461C>T n.672C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031339G>C | CA361028506 | PITX1 | c.339C>G (p.Tyr113Ter) c.461C>G n.672C>G | |
| 5 | g.135031339G= | CA1584341732 | PITX1 | c.339C= (p.Tyr113=) c.461C= n.672C= | |
| 5 | g.135031339G>T | CA361028507 | PITX1 | c.339C>A (p.Tyr113Ter) c.461C>A n.672C>A | |
| 5 | g.135031340T>A | CA361028510 | PITX1 | c.338A>T (p.Tyr113Phe) c.460A>T n.671A>T | |
| 5 | g.135031340T>C | CA361028511 | PITX1 | c.338A>G (p.Tyr113Cys) c.460A>G n.671A>G | |
| 5 | g.135031340T>G | CA361028509 | PITX1 | c.338A>C (p.Tyr113Ser) c.460A>C n.671A>C | |
| 5 | g.135031341A>C | CA361028512 | PITX1 | c.337T>G (p.Tyr113Asp) c.459T>G n.670T>G | gnomAD v4 |
| 5 | g.135031341A>G | CA361028513 | PITX1 | c.337T>C (p.Tyr113His) c.459T>C n.670T>C | |
| 5 | g.135031341A>T | CA361028514 | PITX1 | c.337T>A (p.Tyr113Asn) c.459T>A n.670T>A | |
| 5 | g.135031342G>A | CA446784561 | PITX1 | c.336C>T (p.Arg112=) c.458C>T n.669C>T | |
| 5 | g.135031342G>C | CA446784562 | PITX1 | c.336C>G (p.Arg112=) c.458C>G n.669C>G | |
| 5 | g.135031342G>T | CA446784563 | PITX1 | c.336C>A (p.Arg112=) c.458C>A n.669C>A | |
| 5 | g.135031343C>A | CA361028515 | PITX1 | c.335G>T (p.Arg112Leu) c.457G>T n.668G>T | |
| 5 | g.135031343C>G | CA361028516 | PITX1 | c.335G>C (p.Arg112Pro) c.457G>C n.668G>C | |
| 5 | g.135031343C>T | CA361028517 | PITX1 | c.335G>A (p.Arg112His) c.457G>A n.668G>A | |
| 5 | g.135031344G>A | CA361028518 | PITX1 | c.334C>T (p.Arg112Cys) c.456C>T n.667C>T | gnomAD v4 |
| 5 | g.135031344G>C | CA361028520 | PITX1 | c.334C>G (p.Arg112Gly) c.456C>G n.667C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031344G= | CA1584341734 | PITX1 | c.334C= (p.Arg112=) c.456C= n.667C= | |
| 5 | g.135031344G>T | CA361028519 | PITX1 | c.334C>A (p.Arg112Ser) c.456C>A n.667C>A | |
| 5 | g.135031345G>A | CA446784564 | PITX1 | c.333C>T (p.Asn111=) c.455C>T n.666C>T | |
| 5 | g.135031345G>C | CA361028521 | PITX1 | c.333C>G (p.Asn111Lys) c.455C>G n.666C>G | |
| 5 | g.135031345G>T | CA361028522 | PITX1 | c.333C>A (p.Asn111Lys) c.455C>A n.666C>A | |
| 5 | g.135031346T>A | CA361028523 | PITX1 | c.332A>T (p.Asn111Ile) c.454A>T n.665A>T | |
| 5 | g.135031346T>C | CA361028524 | PITX1 | c.332A>G (p.Asn111Ser) c.454A>G n.665A>G | |
| 5 | g.135031346T>G | CA361028525 | PITX1 | c.332A>C (p.Asn111Thr) c.454A>C n.665A>C | |
| 5 | g.135031347T>A | CA361028527 | PITX1 | c.331A>T (p.Asn111Tyr) c.453A>T n.664A>T | |
| 5 | g.135031347T>C | CA361028528 | PITX1 | c.331A>G (p.Asn111Asp) c.453A>G n.664A>G | |
| 5 | g.135031347T>G | CA361028526 | PITX1 | c.331A>C (p.Asn111His) c.453A>C n.664A>C | |
| 5 | g.135031348C>A | CA361028529 | PITX1 | c.330G>T (p.Arg110Ser) c.452G>T n.663G>T | |
| 5 | g.135031348C>G | CA361028530 | PITX1 | c.330G>C (p.Arg110Ser) c.452G>C n.663G>C | |
| 5 | g.135031348C>T | CA446784565 | PITX1 | c.330G>A (p.Arg110=) c.452G>A n.663G>A | |
| 5 | g.135031349C>A | CA361028531 | PITX1 | c.329G>T (p.Arg110Met) c.451G>T n.662G>T | |
| 5 | g.135031349C>G | CA361028532 | PITX1 | c.329G>C (p.Arg110Thr) c.451G>C n.662G>C | |
| 5 | g.135031349C>T | CA361028533 | PITX1 | c.329G>A (p.Arg110Lys) c.451G>A n.662G>A | |
| 5 | g.135031350_135031357dup | CA2675354037 | PITX1 | c.322_329dup (p.Arg110SerfsTer10) c.322_329dup (p.Arg110SerfsTer?) c.444_451dup n.655_662dup | gnomAD v4 |
| 5 | g.135031350T>A | CA361028534 | PITX1 | c.328A>T (p.Arg110Trp) c.450A>T n.661A>T | |
| 5 | g.135031350T>C | CA361028535 | PITX1 | c.328A>G (p.Arg110Gly) c.450A>G n.661A>G | |
| 5 | g.135031350T>G | CA446784566 | PITX1 | c.328A>C (p.Arg110=) c.450A>C n.661A>C | |
| 5 | g.135031351C>A | CA361028536 | PITX1 | c.327G>T (p.Gln109His) c.449G>T n.660G>T | |
| 5 | g.135031351C>G | CA361028537 | PITX1 | c.327G>C (p.Gln109His) c.449G>C n.660G>C | gnomAD v4 |
| 5 | g.135031351C>T | CA446784567 | PITX1 | c.327G>A (p.Gln109=) c.449G>A n.660G>A | |
| 5 | g.135031352T>A | CA361028538 | PITX1 | c.326A>T (p.Gln109Leu) c.448A>T n.659A>T | |
| 5 | g.135031352T>C | CA361028539 | PITX1 | c.326A>G (p.Gln109Arg) c.448A>G n.659A>G | |
| 5 | g.135031352T>G | CA361028540 | PITX1 | c.326A>C (p.Gln109Pro) c.448A>C n.659A>C | |
| 5 | g.135031353G>A | CA361028541 | PITX1 | c.325C>T (p.Gln109Ter) c.447C>T n.658C>T | |
| 5 | g.135031353G>C | CA361028542 | PITX1 | c.325C>G (p.Gln109Glu) c.447C>G n.658C>G | |
| 5 | g.135031353G>T | CA361028543 | PITX1 | c.325C>A (p.Gln109Lys) c.447C>A n.658C>A | |
| 5 | g.135031354G>A | CA3417645 | PITX1 | c.324C>T (p.Phe108=) c.446C>T n.657C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031354G>C | CA361028545 | PITX1 | c.324C>G (p.Phe108Leu) c.446C>G n.657C>G | |
| 5 | g.135031354G= | CA1584341737 | PITX1 | c.324C= (p.Phe108=) c.446C= n.657C= | |
| 5 | g.135031354G>T | CA361028544 | PITX1 | c.324C>A (p.Phe108Leu) c.446C>A n.657C>A | |
| 5 | g.135031355A>C | CA361028546 | PITX1 | c.323T>G (p.Phe108Cys) c.445T>G n.656T>G | |
| 5 | g.135031355A>G | CA361028547 | PITX1 | c.323T>C (p.Phe108Ser) c.445T>C n.656T>C | |
| 5 | g.135031355A>T | CA361028548 | PITX1 | c.323T>A (p.Phe108Tyr) c.445T>A n.656T>A | |
| 5 | g.135031356A>C | CA361028549 | PITX1 | c.322T>G (p.Phe108Val) c.444T>G n.655T>G | |
| 5 | g.135031356A>G | CA361028550 | PITX1 | c.322T>C (p.Phe108Leu) c.444T>C n.655T>C | |
| 5 | g.135031356A>T | CA361028551 | PITX1 | c.322T>A (p.Phe108Ile) c.444T>A n.655T>A | |
| 5 | g.135031356_135031368del | CA2675354038 | PITX1 | c.310_322del (p.Leu104SerfsTer9) c.310_322del (p.Leu104SerfsTer?) c.432_444del n.643_655del | gnomAD v4 |
| 5 | g.135031357C>A | CA446784570 | PITX1 | c.321G>T (p.Thr107=) c.443G>T n.654G>T | |
| 5 | g.135031357C= | CA1584341741 | PITX1 | c.321G= (p.Thr107=) c.443G= n.654G= | |
| 5 | g.135031357C>G | CA446784568 | PITX1 | c.321G>C (p.Thr107=) c.443G>C n.654G>C | |
| 5 | g.135031357C>T | CA446784569 | PITX1 | c.321G>A (p.Thr107=) c.443G>A n.654G>A | dbSNP gnomAD v4 |
| 5 | g.135031358G>A | CA361028552 | PITX1 | c.320C>T (p.Thr107Met) c.442C>T n.653C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031358G>C | CA361028553 | PITX1 | c.320C>G (p.Thr107Arg) c.442C>G n.653C>G | |
| 5 | g.135031358G= | CA1584341745 | PITX1 | c.320C= (p.Thr107=) c.442C= n.653C= | |
| 5 | g.135031358G>T | CA361028554 | PITX1 | c.320C>A (p.Thr107Lys) c.442C>A n.653C>A | |
| 5 | g.135031359T>A | CA361028555 | PITX1 | c.319A>T (p.Thr107Ser) c.441A>T n.652A>T | |
| 5 | g.135031359T>C | CA361028556 | PITX1 | c.319A>G (p.Thr107Ala) c.441A>G n.652A>G | |
| 5 | g.135031359T>G | CA361028557 | PITX1 | c.319A>C (p.Thr107Pro) c.441A>C n.652A>C | |
| 5 | g.135031360G>A | CA446784571 | PITX1 | c.318C>T (p.Ala106=) c.440C>T n.651C>T | gnomAD v4 |
| 5 | g.135031360G>C | CA446784572 | PITX1 | c.318C>G (p.Ala106=) c.440C>G n.651C>G | |
| 5 | g.135031360G>T | CA446784573 | PITX1 | c.318C>A (p.Ala106=) c.440C>A n.651C>A | |
| 5 | g.135031361G>A | CA361028560 | PITX1 | c.317C>T (p.Ala106Val) c.439C>T n.650C>T | gnomAD v4 |
| 5 | g.135031361G>C | CA361028558 | PITX1 | c.317C>G (p.Ala106Gly) c.439C>G n.650C>G | |
| 5 | g.135031361G>T | CA361028559 | PITX1 | c.317C>A (p.Ala106Asp) c.439C>A n.650C>A | |
| 5 | g.135031362C>A | CA361028561 | PITX1 | c.316G>T (p.Ala106Ser) c.438G>T n.649G>T | |
| 5 | g.135031362C= | CA1584341748 | PITX1 | c.316G= (p.Ala106=) c.438G= n.649G= | |
| 5 | g.135031362C>G | CA361028562 | PITX1 | c.316G>C (p.Ala106Pro) c.438G>C n.649G>C | |
| 5 | g.135031362C>T | CA361028563 | PITX1 | c.316G>A (p.Ala106Thr) c.438G>A n.649G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031363C>A | CA361028564 | PITX1 | c.315G>T (p.Glu105Asp) c.437G>T n.648G>T | |
| 5 | g.135031363C>G | CA361028565 | PITX1 | c.315G>C (p.Glu105Asp) c.437G>C n.648G>C | |
| 5 | g.135031363C>T | CA446784574 | PITX1 | c.315G>A (p.Glu105=) c.437G>A n.648G>A | gnomAD v4 |
| 5 | g.135031364T>A | CA361028568 | PITX1 | c.314A>T (p.Glu105Val) c.436A>T n.647A>T | |
| 5 | g.135031364T>C | CA361028567 | PITX1 | c.314A>G (p.Glu105Gly) c.436A>G n.647A>G | |
| 5 | g.135031364T>G | CA361028566 | PITX1 | c.314A>C (p.Glu105Ala) c.436A>C n.647A>C | |
| 5 | g.135031365C>A | CA361028569 | PITX1 | c.313G>T (p.Glu105Ter) c.435G>T n.646G>T | |
| 5 | g.135031365C>G | CA361028570 | PITX1 | c.313G>C (p.Glu105Gln) c.435G>C n.646G>C | |
| 5 | g.135031365C>T | CA361028571 | PITX1 | c.313G>A (p.Glu105Lys) c.435G>A n.646G>A | |
| 5 | g.135031366T>A | CA446784575 | PITX1 | c.312A>T (p.Leu104=) c.434A>T n.645A>T | |
| 5 | g.135031366T>C | CA446784576 | PITX1 | c.312A>G (p.Leu104=) c.434A>G n.645A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031366T>G | CA446784577 | PITX1 | c.312A>C (p.Leu104=) c.434A>C n.645A>C | |
| 5 | g.135031366T= | CA1584341750 | PITX1 | c.312A= (p.Leu104=) c.434A= n.645A= | |
| 5 | g.135031367A>C | CA361028572 | PITX1 | c.311T>G (p.Leu104Arg) c.433T>G n.644T>G | |
| 5 | g.135031367A>G | CA361028573 | PITX1 | c.311T>C (p.Leu104Pro) c.433T>C n.644T>C | |
| 5 | g.135031367A>T | CA361028574 | PITX1 | c.311T>A (p.Leu104Gln) c.433T>A n.644T>A | |
| 5 | g.135031368G>A | CA3417646 | PITX1 | c.310C>T (p.Leu104=) c.432C>T n.643C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031368G>C | CA361028575 | PITX1 | c.310C>G (p.Leu104Val) c.432C>G n.643C>G | |
| 5 | g.135031368G= | CA1584341753 | PITX1 | c.310C= (p.Leu104=) c.432C= n.643C= | |
| 5 | g.135031368G>T | CA361028576 | PITX1 | c.310C>A (p.Leu104Ile) c.432C>A n.643C>A | |
| 5 | g.135031369C>A | CA361028577 | PITX1 | c.309G>T (p.Glu103Asp) c.431G>T n.642G>T | |
| 5 | g.135031369C= | CA1584341759 | PITX1 | c.309G= (p.Glu103=) c.431G= n.642G= | |
| 5 | g.135031369C>G | CA361028578 | PITX1 | c.309G>C (p.Glu103Asp) c.431G>C n.642G>C | |
| 5 | g.135031369C>T | CA446784578 | PITX1 | c.309G>A (p.Glu103=) c.431G>A n.642G>A | dbSNP gnomAD v2 |
| 5 | g.135031370T>A | CA361028579 | PITX1 | c.308A>T (p.Glu103Val) c.430A>T n.641A>T | |
| 5 | g.135031370T>C | CA361028580 | PITX1 | c.308A>G (p.Glu103Gly) c.430A>G n.641A>G | |
| 5 | g.135031370T>G | CA361028581 | PITX1 | c.308A>C (p.Glu103Ala) c.430A>C n.641A>C | |
| 5 | g.135031371C>A | CA361028582 | PITX1 | c.307G>T (p.Glu103Ter) c.429G>T n.640G>T | |
| 5 | g.135031371C>G | CA361028583 | PITX1 | c.307G>C (p.Glu103Gln) c.429G>C n.640G>C | COSMIC |
| 5 | g.135031371C>T | CA361028584 | PITX1 | c.307G>A (p.Glu103Lys) c.429G>A n.640G>A | |
| 5 | g.135031372T>A | CA361028585 | PITX1 | c.306A>T (p.Gln102His) c.428A>T n.639A>T | |
| 5 | g.135031372T>C | CA446784580 | PITX1 | c.306A>G (p.Gln102=) c.428A>G n.639A>G | gnomAD v4 |
| 5 | g.135031372T>G | CA361028586 | PITX1 | c.306A>C (p.Gln102His) c.428A>C n.639A>C | gnomAD v4 |
| 5 | g.135031373T>A | CA361028587 | PITX1 | c.305A>T (p.Gln102Leu) c.427A>T n.638A>T | |
| 5 | g.135031373T>C | CA361028588 | PITX1 | c.305A>G (p.Gln102Arg) c.427A>G n.638A>G | |
| 5 | g.135031373T>G | CA361028589 | PITX1 | c.305A>C (p.Gln102Pro) c.427A>C n.638A>C | |
| 5 | g.135031374G>A | CA361028590 | PITX1 | c.304C>T (p.Gln102Ter) c.426C>T n.637C>T | |
| 5 | g.135031374G>C | CA361028592 | PITX1 | c.304C>G (p.Gln102Glu) c.426C>G n.637C>G | |
| 5 | g.135031374G>T | CA361028591 | PITX1 | c.304C>A (p.Gln102Lys) c.426C>A n.637C>A | |
| 5 | g.135031375C>A | CA361028593 | PITX1 | c.303G>T (p.Leu101Phe) c.425G>T n.636G>T | |
| 5 | g.135031375C>G | CA361028594 | PITX1 | c.303G>C (p.Leu101Phe) c.425G>C n.636G>C | |
| 5 | g.135031375C>T | CA446784581 | PITX1 | c.303G>A (p.Leu101=) c.425G>A n.636G>A | gnomAD v4 |
| 5 | g.135031376A>C | CA361028595 | PITX1 | c.302T>G (p.Leu101Trp) c.424T>G n.635T>G | |
| 5 | g.135031376A>G | CA361028596 | PITX1 | c.302T>C (p.Leu101Ser) c.424T>C n.635T>C | |
| 5 | g.135031376A>T | CA361028597 | PITX1 | c.302T>A (p.Leu101Ter) c.424T>A n.635T>A | |
| 5 | g.135031377A= | CA1584341762 | PITX1 | c.301T= (p.Leu101=) c.423T= n.634T= | |
| 5 | g.135031377A>C | CA361028598 | PITX1 | c.301T>G (p.Leu101Val) c.423T>G n.634T>G | |
| 5 | g.135031377A>G | CA3417647 | PITX1 | c.301T>C (p.Leu101=) c.423T>C n.634T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031377A>T | CA361028599 | PITX1 | c.301T>A (p.Leu101Met) c.423T>A n.634T>A | |
| 5 | g.135031378C>A | CA361028600 | PITX1 | c.300G>T (p.Gln100His) c.422G>T n.633G>T | |
| 5 | g.135031378C>G | CA361028601 | PITX1 | c.300G>C (p.Gln100His) c.422G>C n.633G>C | |
| 5 | g.135031378C>T | CA446784582 | PITX1 | c.300G>A (p.Gln100=) c.422G>A n.633G>A | gnomAD v4 |
| 5 | g.135031379T>A | CA361028602 | PITX1 | c.299A>T (p.Gln100Leu) c.421A>T n.632A>T | |
| 5 | g.135031379T>C | CA361028603 | PITX1 | c.299A>G (p.Gln100Arg) c.421A>G n.632A>G | |
| 5 | g.135031379T>G | CA361028604 | PITX1 | c.299A>C (p.Gln100Pro) c.421A>C n.632A>C | |
| 5 | g.135031380G>A | CA361028607 | PITX1 | c.298C>T (p.Gln100Ter) c.420C>T n.631C>T | |
| 5 | g.135031380G>C | CA361028606 | PITX1 | c.298C>G (p.Gln100Glu) c.420C>G n.631C>G | |
| 5 | g.135031380G>T | CA361028605 | PITX1 | c.298C>A (p.Gln100Lys) c.420C>A n.631C>A | |
| 5 | g.135031381C>A | CA361028608 | PITX1 | c.297G>T (p.Gln99His) c.419G>T n.630G>T | |
| 5 | g.135031381C= | CA1584341764 | PITX1 | c.297G= (p.Gln99=) c.419G= n.630G= | |
| 5 | g.135031381C>G | CA361028609 | PITX1 | c.297G>C (p.Gln99His) c.419G>C n.630G>C | dbSNP |
| 5 | g.135031381C>T | CA446784583 | PITX1 | c.297G>A (p.Gln99=) c.419G>A n.630G>A | |
| 5 | g.135031382T>A | CA361028610 | PITX1 | c.296A>T (p.Gln99Leu) c.418A>T n.629A>T | |
| 5 | g.135031382T>C | CA361028611 | PITX1 | c.296A>G (p.Gln99Arg) c.418A>G n.629A>G | |
| 5 | g.135031382T>G | CA361028612 | PITX1 | c.296A>C (p.Gln99Pro) c.418A>C n.629A>C | |
| 5 | g.135031383G>A | CA361028613 | PITX1 | c.295C>T (p.Gln99Ter) c.417C>T n.628C>T | |
| 5 | g.135031383G>C | CA361028614 | PITX1 | c.295C>G (p.Gln99Glu) c.417C>G n.628C>G | |
| 5 | g.135031383G>T | CA361028615 | PITX1 | c.295C>A (p.Gln99Lys) c.417C>A n.628C>A | |
| 5 | g.135031384G>A | CA3417648 | PITX1 | c.294C>T (p.Ser98=) c.416C>T n.627C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031384G>C | CA361028616 | PITX1 | c.294C>G (p.Ser98Arg) c.416C>G n.627C>G | |
| 5 | g.135031384G= | CA1584341766 | PITX1 | c.294C= (p.Ser98=) c.416C= n.627C= | |
| 5 | g.135031384G>T | CA361028617 | PITX1 | c.294C>A (p.Ser98Arg) c.416C>A n.627C>A | |
| 5 | g.135031385C>A | CA128011189 | PITX1 | c.293G>T (p.Ser98Ile) c.415G>T n.626G>T | dbSNP |
| 5 | g.135031385C= | CA1584341769 | PITX1 | c.293G= (p.Ser98=) c.415G= n.626G= | |
| 5 | g.135031385C>G | CA361028618 | PITX1 | c.293G>C (p.Ser98Thr) c.415G>C n.626G>C | |
| 5 | g.135031385C>T | CA361028619 | PITX1 | c.293G>A (p.Ser98Asn) c.415G>A n.626G>A | |
| 5 | g.135031386T>A | CA361028621 | PITX1 | c.292A>T (p.Ser98Cys) c.414A>T n.625A>T | |
| 5 | g.135031386T>C | CA361028622 | PITX1 | c.292A>G (p.Ser98Gly) c.414A>G n.625A>G | |
| 5 | g.135031386T>G | CA361028620 | PITX1 | c.292A>C (p.Ser98Arg) c.414A>C n.625A>C | |
| 5 | g.135031387del | CA2580072748 | PITX1 | c.292del (p.Ser98AlafsTer7) c.414del n.625del | ClinVar |
| 5 | g.135031387T>A | CA446784584 | PITX1 | c.291A>T (p.Thr97=) c.413A>T n.624A>T | |
| 5 | g.135031387T>C | CA446784585 | PITX1 | c.291A>G (p.Thr97=) c.413A>G n.624A>G | |
| 5 | g.135031387T>G | CA446784586 | PITX1 | c.291A>C (p.Thr97=) c.413A>C n.624A>C | |
| 5 | g.135031388G>A | CA361028623 | PITX1 | c.290C>T (p.Thr97Ile) c.412C>T n.623C>T | |
| 5 | g.135031388G>C | CA361028624 | PITX1 | c.290C>G (p.Thr97Arg) c.412C>G n.623C>G | gnomAD v4 |
| 5 | g.135031388G= | CA1584341772 | PITX1 | c.290C= (p.Thr97=) c.412C= n.623C= | |
| 5 | g.135031388G>T | CA3417649 | PITX1 | c.290C>A (p.Thr97Lys) c.412C>A n.623C>A | dbSNP ExAC gnomAD v2 |
| 5 | g.135031389T>A | CA361028625 | PITX1 | c.289A>T (p.Thr97Ser) c.411A>T n.622A>T | |
| 5 | g.135031389T>C | CA361028626 | PITX1 | c.289A>G (p.Thr97Ala) c.411A>G n.622A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031389T>G | CA361028627 | PITX1 | c.289A>C (p.Thr97Pro) c.411A>C n.622A>C | |
| 5 | g.135031389T= | CA1584341776 | PITX1 | c.289A= (p.Thr97=) c.411A= n.622A= | |
| 5 | g.135031390G>A | CA446784588 | PITX1 | c.288C>T (p.Phe96=) c.410C>T n.621C>T | |
| 5 | g.135031390G>C | CA361028628 | PITX1 | c.288C>G (p.Phe96Leu) c.410C>G n.621C>G | |
| 5 | g.135031390G>T | CA361028629 | PITX1 | c.288C>A (p.Phe96Leu) c.410C>A n.621C>A | |
| 5 | g.135031390_135031391del | CA2675354039 | PITX1 | c.287_288del (p.Phe96TyrfsTer?) c.409_410del n.620_621del | gnomAD v4 |
| 5 | g.135031391A= | CA1584341778 | PITX1 | c.287T= (p.Phe96=) c.409T= n.620T= | |
| 5 | g.135031391A>C | CA361028630 | PITX1 | c.287T>G (p.Phe96Cys) c.409T>G n.620T>G | |
| 5 | g.135031391A>G | CA361028631 | PITX1 | c.287T>C (p.Phe96Ser) c.409T>C n.620T>C | dbSNP |
| 5 | g.135031391A>T | CA361028632 | PITX1 | c.287T>A (p.Phe96Tyr) c.409T>A n.620T>A | |
| 5 | g.135031392A>C | CA361028633 | PITX1 | c.286T>G (p.Phe96Val) c.408T>G n.619T>G | |
| 5 | g.135031392A>G | CA361028634 | PITX1 | c.286T>C (p.Phe96Leu) c.408T>C n.619T>C | |
| 5 | g.135031392A>T | CA361028635 | PITX1 | c.286T>A (p.Phe96Ile) c.408T>A n.619T>A | |
| 5 | g.135031393G>A | CA446784589 | PITX1 | c.285C>T (p.His95=) c.407C>T n.618C>T | gnomAD v4 |
| 5 | g.135031393G>C | CA361028636 | PITX1 | c.285C>G (p.His95Gln) c.407C>G n.618C>G | |
| 5 | g.135031393G= | CA1584341781 | PITX1 | c.285C= (p.His95=) c.407C= n.618C= | |
| 5 | g.135031393G>T | CA361028637 | PITX1 | c.285C>A (p.His95Gln) c.407C>A n.618C>A | dbSNP gnomAD v2 |
| 5 | g.135031394T>A | CA361028638 | PITX1 | c.284A>T (p.His95Leu) c.406A>T n.617A>T | |
| 5 | g.135031394T>C | CA361028639 | PITX1 | c.284A>G (p.His95Arg) c.406A>G n.617A>G | |
| 5 | g.135031394T>G | CA361028640 | PITX1 | c.284A>C (p.His95Pro) c.406A>C n.617A>C | |
| 5 | g.135031395G>A | CA361028641 | PITX1 | c.283C>T (p.His95Tyr) c.405C>T n.616C>T | |
| 5 | g.135031395G>C | CA361028642 | PITX1 | c.283C>G (p.His95Asp) c.405C>G n.616C>G | |
| 5 | g.135031395G>T | CA361028643 | PITX1 | c.283C>A (p.His95Asn) c.405C>A n.616C>A | |
| 5 | g.135031396C>A | CA128011196 | PITX1 | c.282G>T (p.Thr94=) c.404G>T n.615G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031396C= | CA1584341786 | PITX1 | c.282G= (p.Thr94=) c.404G= n.615G= | |
| 5 | g.135031396C>G | CA446784590 | PITX1 | c.282G>C (p.Thr94=) c.404G>C n.615G>C | |
| 5 | g.135031396C>T | CA3417650 | PITX1 | c.282G>A (p.Thr94=) c.404G>A n.615G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031397G>A | CA361028644 | PITX1 | c.281C>T (p.Thr94Met) c.403C>T n.614C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031397G>C | CA361028645 | PITX1 | c.281C>G (p.Thr94Arg) c.403C>G n.614C>G | |
| 5 | g.135031397G= | CA1584341790 | PITX1 | c.281C= (p.Thr94=) c.403C= n.614C= | |
| 5 | g.135031397G>T | CA361028646 | PITX1 | c.281C>A (p.Thr94Lys) c.403C>A n.614C>A | |
| 5 | g.135031398T>A | CA361028647 | PITX1 | c.280A>T (p.Thr94Ser) c.402A>T n.613A>T | |
| 5 | g.135031398T>C | CA361028649 | PITX1 | c.280A>G (p.Thr94Ala) c.402A>G n.613A>G | gnomAD v4 |
| 5 | g.135031398T>G | CA361028648 | PITX1 | c.280A>C (p.Thr94Pro) c.402A>C n.613A>C | |
| 5 | g.135031399A>C | CA446784593 | PITX1 | c.279T>G (p.Arg93=) c.401T>G n.612T>G | |
| 5 | g.135031399A>G | CA446784592 | PITX1 | c.279T>C (p.Arg93=) c.401T>C n.612T>C | |
| 5 | g.135031399A>T | CA446784591 | PITX1 | c.279T>A (p.Arg93=) c.401T>A n.612T>A | |
| 5 | g.135031400C>A | CA361028650 | PITX1 | c.278G>T (p.Arg93Leu) c.400G>T n.611G>T | |
| 5 | g.135031400C= | CA1584341792 | PITX1 | c.278G= (p.Arg93=) c.400G= n.611G= | |
| 5 | g.135031400C>G | CA361028652 | PITX1 | c.278G>C (p.Arg93Pro) c.400G>C n.611G>C | |
| 5 | g.135031400C>T | CA361028651 | PITX1 | c.278G>A (p.Arg93His) c.400G>A n.611G>A | dbSNP COSMIC |
| 5 | g.135031401G>A | CA361028653 | PITX1 | c.277C>T (p.Arg93Cys) c.399C>T n.610C>T | |
| 5 | g.135031401G>C | CA361028655 | PITX1 | c.277C>G (p.Arg93Gly) c.399C>G n.610C>G | |
| 5 | g.135031401G>T | CA361028654 | PITX1 | c.277C>A (p.Arg93Ser) c.399C>A n.610C>A | |
| 5 | g.135031402T>A | CA361028656 | PITX1 | c.276A>T (p.Gln92His) c.398A>T n.609A>T | |
| 5 | g.135031402T>C | CA446784594 | PITX1 | c.276A>G (p.Gln92=) c.398A>G n.609A>G | |
| 5 | g.135031402T>G | CA361028657 | PITX1 | c.276A>C (p.Gln92His) c.398A>C n.609A>C | |
| 5 | g.135031403T>A | CA361028658 | PITX1 | c.275A>T (p.Gln92Leu) c.397A>T n.608A>T | |
| 5 | g.135031403T>C | CA361028659 | PITX1 | c.275A>G (p.Gln92Arg) c.397A>G n.608A>G | |
| 5 | g.135031403T>G | CA361028660 | PITX1 | c.275A>C (p.Gln92Pro) c.397A>C n.608A>C | |
| 5 | g.135031404G>A | CA361028661 | PITX1 | c.274C>T (p.Gln92Ter) c.396C>T n.607C>T | |
| 5 | g.135031404G>C | CA361028662 | PITX1 | c.274C>G (p.Gln92Glu) c.396C>G n.607C>G | |
| 5 | g.135031404G>T | CA361028663 | PITX1 | c.274C>A (p.Gln92Lys) c.396C>A n.607C>A | |
| 5 | g.135031406_135031411del | CA2675354040 | PITX1 | c.269_274del (p.Arg90_Arg91del) c.391_396del n.602_607del | gnomAD v4 |
| 5 | g.135031405C>A | CA446784595 | PITX1 | c.273G>T (p.Arg91=) c.395G>T n.606G>T | |
| 5 | g.135031405C>G | CA446784596 | PITX1 | c.273G>C (p.Arg91=) c.395G>C n.606G>C | |
| 5 | g.135031405C>T | CA446784597 | PITX1 | c.273G>A (p.Arg91=) c.395G>A n.606G>A | |
| 5 | g.135031406C>A | CA361028664 | PITX1 | c.272G>T (p.Arg91Leu) c.394G>T n.605G>T | |
| 5 | g.135031406C= | CA1584341798 | PITX1 | c.272G= (p.Arg91=) c.394G= n.605G= | |
| 5 | g.135031406C>G | CA361028665 | PITX1 | c.272G>C (p.Arg91Pro) c.394G>C n.605G>C | |
| 5 | g.135031406C>T | CA361028666 | PITX1 | c.272G>A (p.Arg91Gln) c.394G>A n.605G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031407G>A | CA361028667 | PITX1 | c.271C>T (p.Arg91Trp) c.393C>T n.604C>T | gnomAD v4 |
| 5 | g.135031407G>C | CA361028668 | PITX1 | c.271C>G (p.Arg91Gly) c.393C>G n.604C>G | |
| 5 | g.135031407G>T | CA446784598 | PITX1 | c.271C>A (p.Arg91=) c.393C>A n.604C>A | |
| 5 | g.135031408C>A | CA446784599 | PITX1 | c.270G>T (p.Arg90=) c.392G>T n.603G>T | |
| 5 | g.135031408C>G | CA446784600 | PITX1 | c.270G>C (p.Arg90=) c.392G>C n.603G>C | |
| 5 | g.135031408C>T | CA446784601 | PITX1 | c.270G>A (p.Arg90=) c.392G>A n.603G>A | gnomAD v4 |
| 5 | g.135031409C>A | CA361028669 | PITX1 | c.269G>T (p.Arg90Leu) c.391G>T n.602G>T | |
| 5 | g.135031409C= | CA1584341801 | PITX1 | c.269G= (p.Arg90=) c.391G= n.602G= | |
| 5 | g.135031409C>G | CA361028670 | PITX1 | c.269G>C (p.Arg90Pro) c.391G>C n.602G>C | |
| 5 | g.135031409C>T | CA361028671 | PITX1 | c.269G>A (p.Arg90Gln) c.391G>A n.602G>A | gnomAD v4 |
| 5 | g.135031410G>A | CA361028672 | PITX1 | c.268C>T (p.Arg90Trp) c.390C>T n.601C>T | |
| 5 | g.135031410G>C | CA361028673 | PITX1 | c.268C>G (p.Arg90Gly) c.390C>G n.601C>G | |
| 5 | g.135031410G>T | CA446784602 | PITX1 | c.268C>A (p.Arg90=) c.390C>A n.601C>A | |
| 5 | g.135031413_135031415dup | CA563059442 | PITX1 | c.266_268dup (p.Gln89_Arg90insGln) c.388_390dup n.599_601dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031411C>A | CA361028674 | PITX1 | c.267G>T (p.Gln89His) c.389G>T n.600G>T | |
| 5 | g.135031411C>G | CA361028675 | PITX1 | c.267G>C (p.Gln89His) c.389G>C n.600G>C | |
| 5 | g.135031411C>T | CA446784603 | PITX1 | c.267G>A (p.Gln89=) c.389G>A n.600G>A | |
| 5 | g.135031412T>A | CA361028676 | PITX1 | c.266A>T (p.Gln89Leu) c.388A>T n.599A>T | |
| 5 | g.135031412T>C | CA361028677 | PITX1 | c.266A>G (p.Gln89Arg) c.388A>G n.599A>G | |
| 5 | g.135031412T>G | CA361028678 | PITX1 | c.266A>C (p.Gln89Pro) c.388A>C n.599A>C | |
| 5 | g.135031413G>A | CA361028680 | PITX1 | c.265C>T (p.Gln89Ter) c.387C>T n.598C>T | |
| 5 | g.135031413G>C | CA128011197 | PITX1 | c.265C>G (p.Gln89Glu) c.387C>G n.598C>G | dbSNP gnomAD v4 |
| 5 | g.135031413G= | CA1584341805 | PITX1 | c.265C= (p.Gln89=) c.387C= n.598C= | |
| 5 | g.135031413G>T | CA361028679 | PITX1 | c.265C>A (p.Gln89Lys) c.387C>A n.598C>A | |
| 5 | g.135031413_135031416delinsGCTT | CA1584341804 | PITX1 | c.262_265delinsAAGC (p.Lys88=) c.384_387delinsAAGC n.595_598delinsAAGC | |
| 5 | g.135031414C>A | CA361028681 | PITX1 | c.264G>T (p.Lys88Asn) c.386G>T n.597G>T | |
| 5 | g.135031414C>G | CA361028682 | PITX1 | c.264G>C (p.Lys88Asn) c.386G>C n.597G>C | |
| 5 | g.135031414C>T | CA446784604 | PITX1 | c.264G>A (p.Lys88=) c.386G>A n.597G>A | |
| 5 | g.135031423_135031425dup | CA563059443 | PITX1 | c.262_264dup (p.Lys88_Gln89insLys) c.384_386dup n.595_597dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031423_135031425del | CA3417651 | PITX1 | c.262_264del (p.Lys88del) c.384_386del n.595_597del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135031415T>A | CA361028683 | PITX1 | c.263A>T (p.Lys88Met) c.385A>T n.596A>T | |
| 5 | g.135031415T>C | CA361028684 | PITX1 | c.263A>G (p.Lys88Arg) c.385A>G n.596A>G | |
| 5 | g.135031415T>G | CA361028685 | PITX1 | c.263A>C (p.Lys88Thr) c.385A>C n.596A>C | |
| 5 | g.135031416T>A | CA361028686 | PITX1 | c.262A>T (p.Lys88Ter) c.384A>T n.595A>T | |
| 5 | g.135031416T>C | CA361028687 | PITX1 | c.262A>G (p.Lys88Glu) c.384A>G n.595A>G | |
| 5 | g.135031416T>G | CA3417652 | PITX1 | c.262A>C (p.Lys88Gln) c.384A>C n.595A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031416T= | CA1584341816 | PITX1 | c.262A= (p.Lys88=) c.384A= n.595A= | |
| 5 | g.135031417C>A | CA361028688 | PITX1 | c.261G>T (p.Lys87Asn) c.383G>T n.594G>T | |
| 5 | g.135031417C>G | CA361028689 | PITX1 | c.261G>C (p.Lys87Asn) c.383G>C n.594G>C | |
| 5 | g.135031417C>T | CA446784605 | PITX1 | c.261G>A (p.Lys87=) c.383G>A n.594G>A | |
| 5 | g.135031418T>A | CA361028692 | PITX1 | c.260A>T (p.Lys87Met) c.382A>T n.593A>T | |
| 5 | g.135031418T>C | CA361028690 | PITX1 | c.260A>G (p.Lys87Arg) c.382A>G n.593A>G | |
| 5 | g.135031418T>G | CA361028691 | PITX1 | c.260A>C (p.Lys87Thr) c.382A>C n.593A>C | |
| 5 | g.135031419T>A | CA361028693 | PITX1 | c.259A>T (p.Lys87Ter) c.381A>T n.592A>T | |
| 5 | g.135031419T>C | CA361028694 | PITX1 | c.259A>G (p.Lys87Glu) c.381A>G n.592A>G | |
| 5 | g.135031419T>G | CA361028695 | PITX1 | c.259A>C (p.Lys87Gln) c.381A>C n.592A>C | |
| 5 | g.135031420C>A | CA361028696 | PITX1 | c.258G>T (p.Lys86Asn) c.380G>T n.591G>T | |
| 5 | g.135031420C>G | CA361028697 | PITX1 | c.258G>C (p.Lys86Asn) c.380G>C n.591G>C | |
| 5 | g.135031420C>T | CA446784606 | PITX1 | c.258G>A (p.Lys86=) c.380G>A n.591G>A | |
| 5 | g.135031421T>A | CA361028698 | PITX1 | c.257A>T (p.Lys86Met) c.379A>T n.590A>T | gnomAD v4 |
| 5 | g.135031421T>C | CA361028699 | PITX1 | c.257A>G (p.Lys86Arg) c.379A>G n.590A>G | |
| 5 | g.135031421T>G | CA361028700 | PITX1 | c.257A>C (p.Lys86Thr) c.379A>C n.590A>C | dbSNP |
| 5 | g.135031421T= | CA1584341823 | PITX1 | c.257A= (p.Lys86=) c.379A= n.590A= | |
| 5 | g.135031422T>A | CA361028701 | PITX1 | c.256A>T (p.Lys86Ter) c.378A>T n.589A>T | |
| 5 | g.135031422T>C | CA361028702 | PITX1 | c.256A>G (p.Lys86Glu) c.378A>G n.589A>G | gnomAD v4 |
| 5 | g.135031422T>G | CA361028703 | PITX1 | c.256A>C (p.Lys86Gln) c.378A>C n.589A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031422T= | CA1584341827 | PITX1 | c.256A= (p.Lys86=) c.378A= n.589A= | |
| 5 | g.135031423C>A | CA361028704 | PITX1 | c.255G>T (p.Lys85Asn) c.377G>T n.588G>T | |
| 5 | g.135031423C>G | CA361028705 | PITX1 | c.255G>C (p.Lys85Asn) c.377G>C n.588G>C | |
| 5 | g.135031423C>T | CA446784607 | PITX1 | c.255G>A (p.Lys85=) c.377G>A n.588G>A | |
| 5 | g.135031424T>A | CA361028707 | PITX1 | c.254A>T (p.Lys85Met) c.376A>T n.587A>T | |
| 5 | g.135031424T>C | CA361028708 | PITX1 | c.254A>G (p.Lys85Arg) c.376A>G n.587A>G | |
| 5 | g.135031424T>G | CA361028706 | PITX1 | c.254A>C (p.Lys85Thr) c.376A>C n.587A>C | dbSNP |
| 5 | g.135031424T= | CA1584341831 | PITX1 | c.254A= (p.Lys85=) c.376A= n.587A= | |
| 5 | g.135031425T>A | CA361028711 | PITX1 | c.253A>T (p.Lys85Ter) c.375A>T n.586A>T | |
| 5 | g.135031425T>C | CA361028709 | PITX1 | c.253A>G (p.Lys85Glu) c.375A>G n.586A>G | dbSNP gnomAD v4 |
| 5 | g.135031425T>G | CA361028710 | PITX1 | c.253A>C (p.Lys85Gln) c.375A>C n.586A>C | |
| 5 | g.135031425T= | CA1584341833 | PITX1 | c.253A= (p.Lys85=) c.375A= n.586A= | |
| 5 | g.135031426G>A | CA446784608 | PITX1 | c.252C>T (p.Ala84=) c.374C>T n.585C>T | dbSNP |
| 5 | g.135031426G>C | CA446784609 | PITX1 | c.252C>G (p.Ala84=) c.374C>G n.585C>G | |
| 5 | g.135031426G= | CA1584341835 | PITX1 | c.252C= (p.Ala84=) c.374C= n.585C= | |
| 5 | g.135031426G>T | CA446784610 | PITX1 | c.252C>A (p.Ala84=) c.374C>A n.585C>A | |
| 5 | g.135031427G>A | CA361028712 | PITX1 | c.251C>T (p.Ala84Val) c.373C>T n.584C>T | |
| 5 | g.135031427G>C | CA361028713 | PITX1 | c.251C>G (p.Ala84Gly) c.373C>G n.584C>G | gnomAD v4 |
| 5 | g.135031427G= | CA1584341843 | PITX1 | c.251C= (p.Ala84=) c.373C= n.584C= | |
| 5 | g.135031427G>T | CA3417653 | PITX1 | c.251C>A (p.Ala84Asp) c.373C>A n.584C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |